Variant report

Variant	esv3386889
Chromosome Location	chr15:72168429-72168813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72168681..72170784-chr15:72179926..72181699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066933	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140313563	chr15:72168440-72168441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182361680	chr15:72168446-72168447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71281962	chr15:72168490-72168491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398039451	chr15:72168504-72168505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533099785	chr15:72168509-72168510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551319804	chr15:72168525-72168526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566529324	chr15:72168526-72168527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12901095	chr15:72168554-72168555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150198767	chr15:72168558-72168559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575778985	chr15:72168575-72168576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9888653	chr15:72168633-72168634	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543198329	chr15:72168675-72168676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192986729	chr15:72168724-72168725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567256570	chr15:72168727-72168728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138792874	chr15:72168738-72168739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556003005	chr15:72168767-72168768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12906590	chr15:72168793-72168794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141937864	chr15:72168801-72168802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
2	chr15:72119200-72171800	Weak transcription	Psoas Muscle	Psoas
3	chr15:72122200-72189400	Weak transcription	Right Ventricle	heart
4	chr15:72122400-72195000	Weak transcription	NHEK	skin
5	chr15:72122600-72171800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:72122600-72185200	Weak transcription	Esophagus	oesophagus
7	chr15:72122600-72195800	Weak transcription	Gastric	stomach
8	chr15:72131800-72192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:72138200-72172400	Weak transcription	HUVEC	blood vessel
10	chr15:72140200-72171800	Weak transcription	HMEC	breast
11	chr15:72141400-72174200	Weak transcription	Fetal Brain Male	brain
12	chr15:72142600-72170200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:72142600-72171800	Weak transcription	NH-A	brain
14	chr15:72142600-72183400	Weak transcription	Brain Angular Gyrus	brain
15	chr15:72142600-72189600	Weak transcription	NHLF	lung
16	chr15:72142600-72199200	Weak transcription	Hela-S3	cervix
17	chr15:72142800-72170000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:72142800-72171800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:72142800-72172000	Weak transcription	Dnd41	blood
20	chr15:72142800-72176000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:72142800-72184800	Weak transcription	A549	lung
22	chr15:72142800-72190200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:72143000-72172200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:72143000-72190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:72143000-72190600	Weak transcription	Colonic Mucosa	Colon
26	chr15:72143800-72172000	Weak transcription	Brain Germinal Matrix	brain
27	chr15:72144200-72170400	Weak transcription	NHDF-Ad	bronchial
28	chr15:72144600-72170200	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:72144600-72223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:72145200-72170000	Weak transcription	Fetal Brain Female	brain
31	chr15:72145400-72190600	Weak transcription	Spleen	Spleen
32	chr15:72145600-72170600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr15:72145600-72182800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:72145600-72184800	Weak transcription	Lung	lung
35	chr15:72145800-72170400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:72146000-72170000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr15:72146200-72171800	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:72146200-72171800	Weak transcription	Left Ventricle	heart
39	chr15:72146200-72172000	Weak transcription	Brain Anterior Caudate	brain
40	chr15:72146400-72169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:72146400-72169800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:72146400-72170400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:72146400-72171400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:72146400-72171800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr15:72146400-72171800	Weak transcription	Fetal Intestine Large	intestine
46	chr15:72146400-72171800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr15:72146400-72172000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr15:72146400-72172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:72146800-72171600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr15:72147200-72172200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links